Canonical Allele Identifier: CA2340622006

Gene: PNKP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.49861459A= , CM000681.2:g.49861459A=	GRCh38
NC_000019.9:g.50364716A= , CM000681.1:g.50364716A=	GRCh37
NC_000019.8:g.55056528A=	NCBI36
NG_027717.1:g.11107T=
NG_050666.1:g.17616A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322344.8:c.1438T= MANE Select	ENSP00000323511.2:p.Tyr480=
ENST00000636840.1:c.59+149T=
ENST00000640501.1:c.44T=
ENST00000322344.7:c.1438T=	ENSP00000323511.2:p.Tyr480=
ENST00000593946.5:c.*1365T=	ENSP00000468896.1:n.*1365T=
ENST00000594661.5:n.1939T=
ENST00000595081.5:n.341T=
ENST00000596014.5:c.1438T=	ENSP00000472300.1:p.Tyr480=
ENST00000597965.2:c.145T=	ENSP00000471097.2:p.Tyr49=
ENST00000599454.5:n.358T=
ENST00000600573.5:c.1345T=	ENSP00000469826.1:p.Tyr449=
ENST00000600910.5:c.1328T=	ENSP00000473137.1:p.Val443=
ENST00000601816.3:n.510T=
ENST00000625216.2:c.519T=	ENSP00000486898.1:n.519T=
ENST00000627232.2:c.1358T=	ENSP00000486037.1:n.1358T=
ENST00000631020.2:c.1330T=	ENSP00000486707.1:p.Tyr444=
NM_007254.3:c.1438T=	NP_009185.2:p.Tyr480=
NM_007254.4:c.1438T= MANE Select	NP_009185.2:p.Tyr480=